Progress of research on HARS2 in perrault syndrome associated hearing loss
YU Zhenhuan
LI Zhixiang
PANG Xiuhong
Abstract：Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss and ovarian dysfunction.Studies have shown that mutations in eight genes,including HARS2,CLPP,ERAL1,GGPS1,HSD17B4,LARS2,RMND1 and TWNK,are associated with this syndrome.In this review,we systematically review the structure,mutation types and pathogenic mechanisms of the HARS2 gene,and focus on the effects of mutations on protein stability,aminoacylation activity and mitochondrial function,in order to provide a theoretical basis for early diagnosis and targeted therapies of this syndrome.
Keywords：HARS2Perrault syndromesensorineural hearing lossmitochondrial dysfunction
Publication Date：2025-12-20
Online Publishing Date：2025-12-11(First online date of this platform, not the publication date of the document)
Pages：5( 1068-1072 )